Disease-gene associations mined from literature

Literature associating GGT1 and primary sclerosing cholangitis

GGT1 [ENSP00000383232]

Glutathione hydrolase 1 proenzyme; Cleaves the gamma-glutamyl bond of extracellular glutathione (gamma-Glu-Cys-Gly), glutathione conjugates, and other gamma-glutamyl compounds. The metabolism of glutathione releases free glutamate and the dipeptide cysteinyl-glycine, which is hydrolyzed to cysteine and glycine by dipeptidases. In the presence of high concentrations of dipeptides and some amino acids, can also catalyze a transpeptidation reaction, transferring the gamma-glutamyl moiety to an acceptor amino acid to form a new gamma-glutamyl compound. Initiates extracellular glutathione (GSH) breakdown, provides cells with a local cysteine supply and contributes to maintain intracellular GSH level. It is part of the cell antioxidant defense mechanism. Isoform 3 seems to be inactive; CD molecules

Synonyms:  GGT1,  GGT1p,  hGGT1,  GGT2,  GGTLC1 ...

Linkouts:  STRING  Pharos  UniProt